FBN1 c.3793del ;(p.C1265Vfs*11)

Variant ID: 15-48776060-CA-C

NM_000138.4(FBN1):c.3793del;(p.C1265Vfs*11)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection.

Frontiers In Genetics
Pan, Meichen M; Li, Lianjie L; Li, Zehao Z; Chen, Shu S; Li, Zongzhe Z; Wang, Yuning Y; He, Henghui H; Lin, Lihua L; Wang, Haihao H; Liu, Qian Q
Publication Date: 2022

Variant appearance in text: FBN1: 3793delT; Cys1265fs
PubMed Link: 35154271
Variant Present in the following documents:
  • Main text
  • fgene-13-778806.pdf
View BVdb publication page